Pseudohypoparathyroidism

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Pseudohypoparathyroidism

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Overview

Pseudohypoparathyroidism is a condition caused by resistance to the parathyroid hormone. Patients have a low serum calcium and high phosphate, but the parathyroid hormone level is appropriately high.

• Type 1a pseudohypoparathyroidism has a characteristic phenotypic appearance (Albright's hereditary osteodystrophy), including short fourth and fifth metacarpals and a rounded facies.
• Type 1b pseudohypoparathyroidism lacks the physical appearance of type 1a, but is biochemically similar.

The term pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but is biochemically normal.

Diagnosis

Physical Examination

• Short stature
• Obesity

Laboratory Findings

• Hypocalcemia
• Hyperphosphatemia
• Elevated parathyroid hormone (hyperparathyroidism)

Types

• Online Mendelian Inheritance in Man (OMIM) 103580 - Type 1A (closely associated with Albright's hereditary osteodystrophy)
• Online Mendelian Inheritance in Man (OMIM) 603233 - Type 1B
• Online Mendelian Inheritance in Man (OMIM) 203330 - Type 2

See also

• Hypoparathyroidism